AutismKB 2.0

Evidence Details for NFASC


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Basic Information Top
Gene Symbol:NFASC ( DKFZp686P2250,FLJ46866,KIAA0756,NF,NRCAML )
Gene Full Name: neurofascin
Band: 1q32.1
Quick LinksEntrez ID:23114; OMIM: 609145; Uniprot ID:NFASC_HUMAN; ENSEMBL ID: ENSG00000163531; HGNC ID: 29866
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NFASC|23114|nucleotide
ATGGCCAGGCAGCCACCGCCGCCCTGGGTCCATGCAGCCTTCCTCCTCTGCCTCCTCAGTCTTGGCGGAGCCATCGAAATTCCTATGGATCCAAGCATTCAGAAT
GAGCTGACGCAGCCGCCAACCATCACCAAGCAGTCAGCGAAGGATCACATCGTGGACCCCCGTGATAACATCCTGATTGAGTGTGAAGCAAAAGGGAACCCTGCC
CCCAGCTTCCACTGGACACGAAACAGCAGATTCTTCAACATCGCCAAGGACCCCCGGGTGTCCATGAGGAGGAGGTCTGGGACCCTGGTGATTGACTTCCGCAGT
GGCGGGCGGCCGGAGGAATATGAGGGGGAATATCAGTGCTTCGCCCGCAACAAATTTGGCACGGCCCTGTCCAATAGGATCCGCCTGCAGGTGTCTAAATCTCCT
CTGTGGCCCAAGGAAAACCTAGACCCTGTCGTGGTCCAAGAGGGCGCTCCTTTGACGCTCCAGTGCAACCCCCCGCCTGGACTTCCATCCCCGGTCATCTTCTGG
ATGAGCAGCTCCATGGAGCCCATCACCCAAGACAAACGTGTCTCTCAGGGCCATAACGGAGACCTATACTTCTCCAACGTGATGCTGCAGGACATGCAGACCGAC
TACAGTTGTAACGCCCGCTTCCACTTCACCCACACCATCCAGCAGAAGAACCCTTTCACCCTCAAGGTCCTCACCACCCGAGGAGTTGCAGAAAGAACACCAAGC
TTCATGTATCCCCAGGGCACCGCGAGCAGCCAGATGGTGCTTCGTGGCATGGACCTCCTGCTGGAATGCATCGCCTCCGGGGTCCCAACACCAGACATCGCATGG
TACAAGAAAGGTGGGGACCTCCCATCTGATAAGGCCAAGTTTGAGAACTTTAATAAGGCCCTGCGTATCACAAATGTCTCTGAGGAAGACTCCGGGGAGTATTTC
TGCCTGGCCTCCAACAAGATGGGCAGCATCCGGCACACGATCTCGGTGAGAGTAAAGGCTGCTCCCTACTGGCTGGACGAACCCAAGAACCTTATTCTGGCTCCT
GGCGAGGATGGGAGACTGGTGTGTCGAGCCAATGGAAACCCCAAACCCACTGTCCAGTGGATGGTGAATGGGGAACCTTTGCAATCGGCACCACCTAACCCAAAC
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>NFASC|23114|protein
MARQPPPPWVHAAFLLCLLSLGGAIEIPMDPSIQNELTQPPTITKQSAKDHIVDPRDNILIECEAKGNPAPSFHWTRNSRFFNIAKDPRVSMRRRSGTLVIDFRS
GGRPEEYEGEYQCFARNKFGTALSNRIRLQVSKSPLWPKENLDPVVVQEGAPLTLQCNPPPGLPSPVIFWMSSSMEPITQDKRVSQGHNGDLYFSNVMLQDMQTD
YSCNARFHFTHTIQQKNPFTLKVLTTRGVAERTPSFMYPQGTASSQMVLRGMDLLLECIASGVPTPDIAWYKKGGDLPSDKAKFENFNKALRITNVSEEDSGEYF
CLASNKMGSIRHTISVRVKAAPYWLDEPKNLILAPGEDGRLVCRANGNPKPTVQWMVNGEPLQSAPPNPNREVAGDTIIFRDTQISSRAVYQCNTSNEHGYLLAN
AFVSVLDVPPRMLSPRNQLIRVILYNRTRLDCPFFGSPIPTLRWFKNGQGSNLDGGNYHVYENGSLEIKMIRKEDQGIYTCVATNILGKAENQVRLEVKDPTRIY
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Evidence summary Top

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Evidences Syndromic Gene GWAS CNV Linkage Association Expression NGS de novo NGS Mosaic NGS Other Low-Scale Gene Studies Total
Score (No. of Studies) No 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (3) 0 (0) 0 (0) 0 (0) 0 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top